ABSTRACT
Thirty-six patients with stroke, aged from 8 months to 15 years, and 28 control children, aged 1-15 years, were studied. In both groups, the evaluation of anamnesis, neurologic status and genotyping for 11 most common prothrombotic polymorphisms were carried out. Coagulogram tests and measurement of homocysteine were performed before the anticoagulant therapy in the main group. The total frequency of prothrombin gene mutations (G20210A, factor V Leiden, MTHFR C677T and MTRR A66G) was 2.8 times higher in the main group compared to the control one. The most frequent genotypes were 677TT (8.3% of cases) and 66GG (30.6%). In patients with stroke, the homocysteine level exceeded the upper limit of normal age and also was significantly elevated in carriers of abovementioned risk genotypes: 10.29 +/- 1.55 mcmol/l vs 7.33 +/- 0.6 mcmol/l (p = 0.018). The coagulogram revealed disorders of anticoagulant system, including the decrease of protein C activity (22.7% of cases), protein S activity (13.6%) and antithrombin III (12.5%) and the increase of D-dimer level (21% of cases). It has been suggested to screen for common prothrombotic states and measure homocysteine levels in children with ischemic stroke and to lower homocysteine levels by using vitamins B6 and B12' and diet.
Subject(s)
Blood Coagulation Factors/genetics , Homocysteine/blood , Stroke/diagnosis , Stroke/genetics , Thrombophilia/diagnosis , Thrombophilia/genetics , Adolescent , Child , Child, Preschool , Humans , Infant , Polymorphism, Genetic , Prothrombin/genetics , Stroke/etiology , Thrombophilia/complicationsABSTRACT
Ischemic stroke in children is a multidisciplinary problem which is based on various etiological factors. The establishment of diagnosis is complex and demands, besides the ascertainment of cerebral infarction by neuroimaging methods, the use of different tests for determination of the main disease. In Russia, the causes of IS in children are elucidated in about 40% of cases. The most plausible causes of the restricted diagnostics are the insufficient knowledge of physicians about etiological factors of this disease, absence of diagnostic standards and poor economic and technical support of municipal medical centers for children that do not allow the timely examination of patients in accordance with a brain stroke diagnostic algorithm. Two cases demonstrating as the variety of etiological factors in IS in children as well as the obvious restriction of diagnostic search are presented.
Subject(s)
Brain Infarction/diagnosis , Brain Infarction/etiology , Brain Infarction/pathology , Child , Child, Preschool , Female , Humans , Magnetic Resonance Imaging , MaleABSTRACT
Acute cerebral vascular pathology is considered to be an actual problem not only for adults but also for children. The data have been accumulating about a serious and non-rare brain disorder, namely acute disturbance of brain circulation, ischemic type. The long existed conception of a predominant role of intra-cerebral hemorrhages in children has also been changed that mirrored in world publications of the last years, mostly devoted to the problem of ischemic stroke.
Subject(s)
Brain Ischemia , Brain Ischemia/epidemiology , Brain Ischemia/etiology , Child , Global Health , Humans , Incidence , Risk FactorsABSTRACT
Twenty-two cases with spastic torticollis in children are analyzed. This syndrome was the only suffering in ten children and was a component of generalized forms of deforming muscular dystonia in twelve. In such cases the time course of spastic torticollis clinical picture, possible alteration of tonic and clinical forms, involvement as a rule of hands and shoulders muscles permit regarding this condition as a variant of local deforming muscular dystonia and not an individual hyperkinesis. The efficacy of routine drug therapy administered to these patients directly depended on the form and pattern of spastic torticollis. Positive shifts were observed in 90.9% of patients, in 40.9% a marked positive effect was attained.
Subject(s)
Torticollis/diagnosis , Adolescent , Child , Chronic Disease , Combined Modality Therapy , Drug Therapy, Combination , Dystonia Musculorum Deformans/classification , Dystonia Musculorum Deformans/diagnosis , Dystonia Musculorum Deformans/therapy , Female , Humans , Male , Muscle Spasticity/classification , Muscle Spasticity/diagnosis , Muscle Spasticity/therapy , Remission Induction , Torticollis/classification , Torticollis/therapySubject(s)
Abnormalities, Multiple/diagnosis , Fingers/abnormalities , Hair/abnormalities , Nose/abnormalities , Osteochondrodysplasias/complications , Abnormalities, Multiple/genetics , Adolescent , Dystonia Musculorum Deformans/complications , Dystonia Musculorum Deformans/diagnosis , Dystonia Musculorum Deformans/genetics , Humans , Male , Osteochondrodysplasias/diagnosis , Osteochondrodysplasias/genetics , PhenotypeABSTRACT
Twelve cases of myoclonus epilepsy initiating in childhood and adolescence were studied clinically, electrophysiologically and biochemically. Myoclonic and epileptic syndromes being most pronounced, the clinical pattern presented certain polymorphism: asymmetry, hyperkinesis, myodystonia, epileptic episodes, mental disorders. The electroencephalographic picture of the disease was variable. Hyperexcretion of glycosaminoglycans and changes in their fraction composition with predominant release of heparan sulphate evidenced for deranged metabolism of mucopolysaccharides.
Subject(s)
Epilepsies, Myoclonic , Adolescent , Age Factors , Child , Diagnosis, Differential , Epilepsies, Myoclonic/diagnosis , Epilepsies, Myoclonic/metabolism , Glycosaminoglycans/metabolism , Heparitin Sulfate/metabolism , HumansABSTRACT
A 41-year-old patient with the rigidity syndrome was observed. The disease was expressed in marked rigidity of the long muscles of the back forming a picture of persistent hyperlordosis which led to a considerable disablement of the patient. Another complaint was spasms of the femoral muscles. A four-year follow-up of the patient revealed periodically recurring ataxia, nystagmus, and dysarthria. The patient benefited by relanium (diazepam) administration. On the basis of the literature data and a clinical analysis of this case the authors review clinical, differential-diagnostic, pathogenetic and etiological aspects of the rigidity syndrome.
Subject(s)
Muscle Rigidity/diagnosis , Adult , Diagnosis, Differential , Diazepam/therapeutic use , Female , Follow-Up Studies , Humans , Muscle Rigidity/etiology , Spasm/diagnosis , SyndromeABSTRACT
The results of sodium oxalate treatment undertaken in 25 patients with various forms of myotonias are presented. The beneficial effect of the drug is confirmed by the clinical, biochemical and electromyographic findings.
Subject(s)
Myotonia Congenita/drug therapy , Oxalates/therapeutic use , Adolescent , Adult , Calcium/analysis , Child , Creatine Kinase/blood , Female , Humans , Male , Middle Aged , Myotonia Congenita/metabolism , Myotonia Congenita/pathology , Oxalic Acid , Sarcoplasmic Reticulum/metabolism , Sarcoplasmic Reticulum/ultrastructure , SyndromeABSTRACT
On the basis of a great body of examination data the electromyographic peculiarities of three forms of myotonia are analyzed. As a result, the authors come to a conclusion that in the third form of myotonia the function of muscular fibres is grossly impaired, this impairment following the pattern of their being put out of activity. This failure appears invariably during the muscle activity and leads, in the end to the clinically observed transient, and in more advanced cases, moderately permanent weakness of the muscles and their hypotrophy. In addition, data on synaptic apparatus involvement were also obtained. The time course of the development of those disorders, as regards the neuromuscular conduction and the distal parts of the muscular fibres is followed. In atrophic myotonia, certain peculiarities of the electrophysiological characteristics of the neuromuscular periphery were noted. In particular, a marked phase of secondary refractoriness was revealed. Thomsen's myotonia was found to differ substantially in the electrophysiological characteristics from the above two forms of the myotonia. Although in a number of cases it is difficult to class a particular case with one or another form of myotonia (this can be explained by an exceedingly great diversity of the biochemical peculiarities inherited by each individual) the differentiation of the above three forms of myotonia is justified from the viewpoint of both exploring the pathogenesis of the disease forms, and choosing the treatment method the most effective in this particular case. Of importance in solving these problems may be diversified electrophysiological examinations of the motor apparatus, and comparisons of their results with those of clinical examinations.
